Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Květa Bláhová"'
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e73927 (2013)
BACKGROUND: Enterohemorrhagic Escherichia coli (EHEC) cause diarrhea-associated hemolytic uremic syndrome (D+ HUS) worldwide, but no systematic study of EHEC as the causative agents of HUS was performed in the Czech Republic. We analyzed stools of al
Externí odkaz:
https://doaj.org/article/6bfe6fe0e7494636b9577e89dd25aae7
Publikováno v:
Pediatric Nephrology. 36:3717-3723
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease. Kidney cysts form over the course of the disease and kidney function slowly declines, usually leading to kidney failure in middle to late adulthood. Ho
Autor:
Tomáš Seeman, Radek Blažík, Fencl Fencl, Květa Bláhová, Lena Obeidová, Jitka Štekrová, Friederike Weigel, Ulrike John-Kroegel
Publikováno v:
Journal of hypertension. 40(3)
Arterial hypertension is a common complication in patients with autosomal recessive polycystic kidney disease (ARPKD), occurring in 33-75% of children when measured by office blood pressure (OBP). Ambulatory blood pressure monitoring (ABPM) is a supe
Publikováno v:
European journal of medical genetics. 63(8)
Atypical haemolytic uraemic syndrome and steroid-resistant nephrotic syndrome are highly rare kidney diseases that can occur in childhood. In some cases, genetic variants may trigger these conditions, although in atypical haemolytic uraemic syndrome
Autor:
Lukáš, Plachý, Lenka, Elblová, Vít, Neuman, Filip, Fencl, Květa, Bláhová, Zbyněk, Straňák, Jan, Lebl, Štěpánka, Průhová
Publikováno v:
Pediatric endocrinology reviews : PER. 16(1)
Overgrowth syndromes are rare genetic disorders characterized by excessive pre- and postnatal growth accompanied by dysmorphic features and developmental disorders. In addition to other health hazards, the life expectancy of affected children may be
Autor:
Jan, Lebl, Lukáš, Plachý, Květa, Bláhová, Lenka, Elblová, Filip, Fencl, Stanislava, Koloušková, Štěpánka, Průhová
Publikováno v:
Casopis lekaru ceskych. 156(5)
Novel genetic findings allow to more reliably elucidate the aetiology and pathogenesis of overgrowth syndromes in children and in adults. The relatively prevalent overgrowth syndromes in foetuses and neonates include Beckwith-Wiedemann (BWS) and Soto
Autor:
Jan Janda, Květa Bláhová, Alena Puchmajerová, Filip Fencl, Stekrová J, Tomáš Seeman, Zdeněk Hříbal
Publikováno v:
Pediatric Nephrology. 24:983-989
Adults with autosomal dominant polycystic kidney disease (ADPKD) and PKD1 mutations have a more severe disease than do patients with PKD2 mutations. The aim of this study was to compare phenotypes between children with mutations in the PKD1/PKD2 gene
Publikováno v:
European journal of pediatrics. 172(1)
We report on a male infant presenting at 4 months of age with failure to thrive, dehydration, hypotonia, lethargy, and vomiting. Laboratory and imaging tests revealed severe hypercalcemia (5.8 mmol/l), suppressed parathyroid hormone (0.41 pmol/l), hy
Autor:
Veronika Stará, Dana Mixová, Jakub Zieg, Tomáš Seeman, Květa Bláhová, Michal Malina, Filip Fencl
Publikováno v:
European journal of pediatrics. 171(1)
Congenital nephrotic syndrome (CNS) is a heterogeneous group of diseases with different causes and prognoses. Two thirds of cases of NS in the first year of life are caused by mutations in four genes (NPHS1, NPHS2, WT1, and LAMB2). The mutation of WT
Autor:
Mikhail Kagan, Verena Matejas, Laurie L. Seaver, Steffen Uebe, Ana Medeira, Ariana Kariminejad, Květa Bláhová, Friedhelm Hildebrandt, Priya Gajjar, Anand A. Saggar, Jörg Dötsch, Elke Wühl, Michel M. Pierson, Detlef Bockenhauer, Pierre Cochat, Faisal F. Alkandari, Markus J. Kemper, Mehmet Baha Aytac, Jutta Muscheites, Alexey A. Tsygin, Hae Il H.I. Cheong, Iwona Maruniak-Chudek, Corinne Antignac, Jillene J. Kogan, Margaret Barrow, Martin Zenker, Hester Y. Kroes, Eberhard Kuwertz-Bröking, Mohnish Suri, Bernward B. Hinkes, Amy Feldman Lewanda, Ellen E. Annexstad, Raoul C.M. Hennekam, Aleksandra Zurowska, Françoise Janssen, Jens Koenig, Lihadh Al-Gazali, Patrick Niaudet
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2010, 31 (9), pp.992. ⟨10.1002/humu.21304⟩
Human Mutation, Wiley, 2010, 31 (9), pp.992. 〈10.1002/humu.21304〉
Human mutation, 31(9), 992-1002. Wiley-Liss Inc.
Human Mutation, Wiley, 2010, 31 (9), pp.992. ⟨10.1002/humu.21304⟩
Human Mutation, Wiley, 2010, 31 (9), pp.992. 〈10.1002/humu.21304〉
Human mutation, 31(9), 992-1002. Wiley-Liss Inc.
International audience; Mutations of LAMB2 typically cause autosomal recessive Pierson syndrome, a disorder characterized by congenital nephrotic syndrome, ocular and neurologic abnormalities, but may occasionally be associated with milder or oligosy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8935d8f22b84e04ad29cc3882c0749fa
https://hal.archives-ouvertes.fr/hal-00555316/document
https://hal.archives-ouvertes.fr/hal-00555316/document